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Anzahl der Publikationen: 59
Zeitschriftenartikel
Hallermayr, Ariane; Steinke-Lange, Verena; Vogelsang, Holger; Rentsch, Markus; de Wit, Maike; Haberl, Christopher; Holinski-Feder, Elke und Pickl, Julia M. A.
(2022):
Clinical Validity of Circulating Tumor DNA as Prognostic and Predictive Marker for Personalized Colorectal Cancer Patient Management.
In: Cancers, Bd. 14, Nr. 3, 851
Hallermayr, Ariane; Wohlfrom, Tobias; Steinke-Lange, Verena; Benet-Pagès, Anna; Scharf, Florentine; Heitzer, Ellen; Mansmann, Ulrich 
ORCID: https://orcid.org/0000-0002-9955-8906; Haberl, Christopher; Wit, Maike de; Vogelsang, Holger; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2022):
Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
In: Journal of Hematology & Oncology, Bd. 15, 125
[PDF, 8MB]
ORCID: https://orcid.org/0000-0002-9955-8906; Haberl, Christopher; Wit, Maike de; Vogelsang, Holger; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2022):
Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
In: Journal of Hematology & Oncology, Bd. 15, 125
[PDF, 8MB]
Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K.; Spier, Isabel ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
ORCID: https://orcid.org/0000-0003-2407-7427; Paske, Iris B. A. W. te; Herwaarden, Yasmijn J. van; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; Voer, Richarda de ORCID: https://orcid.org/0000-0002-8222-0343; Buchanan, Daniel D ORCID: https://orcid.org/0000-0003-2225-6675; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia und Castellvi-Bel, Sergi ORCID: https://orcid.org/0000-0003-1217-5097
(2022):
Germline mutations inWNK2could be associated with serrated polyposis syndrome.
In: Journal of Medical Genetics, Bd. 60, Nr. 6: S. 557-567
Neuhann, Teresa M.; Haub, Katharina; Steinke-Lange, Verena; Morak, Monika; Laner, Andreas; Locher, Melanie und Holinski-Feder, Elke
(2022):
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study.
In: Familial Cancer, Bd. 21, Nr. 4: S. 463-472
Jain, Shashi; Hu, Cheng; Kluza, Jerome; Ke, Wei; Tian, Guiyou; Giurgiu, Madalina; Bleilevens, Andreas; Campos, Alexandre Rosa; Charbono, Adriana; Stickeler, Elmar; Maurer, Jochen; Holinski-Feder, Elke; Vaisburg, Arkadii; Bureik, Matthias; Luo, Guangcheng; Marchetti, Philippe; Cheng, Yabin und Wolf, Dieter A.
(2022):
Metabolic targeting of cancer by a ubiquinone uncompetitive inhibitor of mitochondrial complex I.
In: Cell Chemical Biology, Bd. 29, Nr. 3, E15: S. 436-450
Sommer, Anna K.; te Paske, Iris B. A. W.; Garcia-Pelaez, Jose; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan und Oliveira, Carla
(2022):
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
In: European Journal of Medical Genetics, Bd. 65, Nr. 5, 104475
Morak, Monika; Pineda, Marta; Martins, Alexandra; Gaildrat, Pascaline; Tubeuf, Helene; Drouet, Aurelie; Gomez, Carolina; Damaso, Estela; Schäfer, Kerstin; Steinke-Lange, Verena; Koehler, Udo; Laner, Andreas; Hauchard, Julie; Chauris, Karine; Holinski-Feder, Elke und Capella, Gabriel
(2022):
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
In: European Journal of Human Genetics, Bd. 30, Nr. 9: S. 1051-1059
Kratz, Christian Peter; Steinke-Lange, Verena; Spier, Isabel; Aretz, Stefan; Schröck, Evelin und Holinski-Feder, Elke
(2022):
Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
In: Geburtshilfe und Frauenheilkunde, Bd. 82, Nr. 1: S. 42-49
Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela
(2022):
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
In: Brain, Bd. 146, Nr. 4: S. 1388-1402
Erdmann, Hannes; Schoeberl, Florian; Giurgiu, Madalina; Silva, Rafaela Magalhaes Leal; Scholz, Veronika; Scharf, Florentine; Wendlandt, Martin; Kleinle, Stephanie; Deschauer, Marcus; Nuebling, Georg; Heide, Wolfgang; Babacan, Sait Seymen; Schneider, Christine; Neuhann, Teresa; Hahn, Katrin; Schoser, Benedikt; Holinski-Feder, Elke; Wolf, Dieter A. und Abicht, Angela
(2022):
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
In: Brain, Bd. 146, Nr. 5: S. 1831-1843
Scharf, Florentine; Silva, Rafaela Magalhaes Leal; Morak, Monika; Hastie, Alex; Pickl, Julia M. A.; Sendelbach, Kai; Gebhard, Christian; Locher, Melanie; Laner, Andreas; Steinke-Lange, Verena; Koehler, Udo; Holinski-Feder, Elke und Wolf, Dieter A.
(2022):
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 976-983
Moller, Pal; Seppala, Toni; Dowty, James G.; Haupt, Saskia; Dominguez-Valentin, Mev; Sunde, Lone; Bernstein, Inge; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Half, Elizabeth; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Scott, Rodney J.; Katz, Lior; Laish, Ido; Vainer, Elez; Vaccaro, Carlos Alberto; Carraro, Dirce Maria; Gluck, Nathan; Abu-Freha, Naim; Stakelum, Aine; Kennelly, Rory; Winter, Des; Rossi, Benedito Mauro; Greenblatt, Marc; Bohorquez, Mabel; Sheth, Harsh; Tibiletti, Maria Grazia; Lino-Silva, Leonardo S.; Horisberger, Karoline; Portenkirchner, Carmen; Nascimento, Ivana; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Thomas, Huw; Zarand, Attila; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; Therkildsen, Christina; Lindberg, Lars Joachim; Thorlacius-Ussing, Ole; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; de Vargas, Aida Falcon; Latchford, Andrew; Gerdes, Anne-Marie; Backman, Ann-Sofie; Guillen-Ponce, Carmen; Snyder, Carrie; Lautrup, Charlotte K.; Amor, David; Palmero, Edenir; Stoffel, Elena; Duijkers, Floor; Hall, Michael J.; Hampel, Heather; Williams, Heinric; Okkels, Henrik; Lubinski, Jan; Reece, Jeanette; Ngeow, Joanne; Guillem, Jose G.; Arnold, Julie; Wadt, Karin; Monahan, Kevin; Senter, Leigha; Rasmussen, Lene J.; Hest, Liselotte P. van; Ricciardiello, Luigi; Kohonen-Corish, Maija R. J.; Ligtenberg, Marjolijn J. L.; Southey, Melissa; Aronson, Melyssa; Zahary, Mohd N.; Samadder, N. Jewel; Poplawski, Nicola; Hoogerbrugge, Nicoline; Morrison, Patrick J.; James, Paul; Lee, Grant; Chen-Shtoyerman, Rakefet; Ankathil, Ravindran; Pai, Rish; Ward, Robyn; Parry, Susan; Debniak, Tadeusz; John, Thomas; Overeem Hansen, Thomas van; Caldes, Trinidad; Yamaguchi, Tatsuro; Barca-Tierno, Veronica; Garre, Pilar; Cavestro, Giulia Martina; Weitz, Juergen; Redler, Silke; Buettner, Reinhard; Heuveline, VincentZ; Hopper, John L.; Win, Aung Ko; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; ten Broeke, Sanne W.; Hovig, Eivind; Nakken, Sigve; Pineda, Marta; Duenas, Nuria; Brunet, Joan; Green, Kate; Lalloo, Fiona; Newton, Katie; Crosbie, Emma J.; Mints, Miriam; Tjandra, Douglas; Neffa, Florencia; Esperon, Patricia; Kariv, Revital; Rosner, Guy; Pavicic, Walter Hernan; Kalfayan, Pablo; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia; Moslein, Gabriela; Ahadova, Aysel; Kloor, Matthias; Sampson, Julian R. und Jenkins, Mark A.
(2022):
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
In: Hereditary Cancer in Clinical Practice, Bd. 20, Nr. 1, 36
Hallermayr, Ariane; Neuhann, Teresa M.; Steinke-Lange, Verena; Scharf, Florentine; Laner, Andreas; Ewald, Roland; Liesfeld, Ben; Holinski-Feder, Elke und Pickl, Julia M. A.
(2022):
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.
In: Frontiers in Oncology, Bd. 12, 1014592
Busch, Elena; Ahadova, Aysel; Kosmalla, Kosima; Bohaumilitzky, Lena; Pfuderer, Pauline L.; Ballhausen, Alexej; Witt, Johannes; Wittemann, Jan-Niklas; Blaker, Hendrik; Holinski-Feder, Elke; Jager, Dirk; Knebel Doeberitz, Magnus von; Haag, Georg Martin und Kloor, Matthias
(8. Juni 2021):
Beta-2-microglobulin Mutations Are Linked to a Distinct Metastatic Pattern and a Favorable Outcome in Microsatellite-Unstable Stage IV Gastrointestinal Cancers.
In: Frontiers in Oncology, Bd. 11, 669774
[PDF, 3MB]
Seppälä, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vida, Joan B.; Kariv, Revital; Rosner, Guy; Pinero, Tamara A.; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Büttner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Redler, Silke; Weitz, Jürgen; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Hopper, John L.; Win, Aung K.; Lindor, Noralane M.; Gallinger, Steven; Marchand, Loic Le; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Wadt, Karin A. W.; Mourits, Marian J. E.; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar A.; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Rokkones, Erik; Sampson, Julian R.; Evans, D. G. und Moller, Pal
(2021):
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
In: European Journal of Cancer, Bd. 148: S. 124-133
Abicht, Angela; Schön, Ulrike; Laner, Andreas; Holinski-Feder, Elke und Diebold, Isabel
(2021):
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
In: Cardiovascular Diagnosis and Therapy, Bd. 11, Nr. 2:
637-
Bucksch, Karolin; Zachariae, Silke; Ahadova, Aysel; Aretz, Stefan; Buttner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Hueneburg, Robert; Kloor, Matthias; Doeberitz, Magnus Knebel; Ladigan-Badura, Swetlana; Moeslein, Gabriela; Morak, Monika; Nattermann, Jacob; Huu Phuc, Nguyen; Perne, Claudia; Redler, Silke; Schmetz, Ariane; Steinke-Lange, Verena; Surowy, Harald; Vangala, Deepak B.; Weitz, Jürgen; Loeffler, Markus und Engel, Christoph
(2021):
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
In: International Journal of Cancer, Bd. 150, Nr. 1: S. 56-66
Hallermayr, Ariane; Benet-Pagès, Anna; Steinke-Lange, Verena; Mansmann, Ulrich ORCID: https://orcid.org/0000-0002-9955-8906; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2021):
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
In: Clinical Chemistry
ORCID: https://orcid.org/0000-0002-9955-8906; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2021):
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
In: Clinical Chemistry
Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; Broeke, Sanne W. ten; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Seppälä, Toni T. und Moller, Pal
(2021):
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
In: Journal of Clinical Medicine, Bd. 10, Nr. 13, 2856
Hallermayr, Ariane; Benet-Pages, Anna; Steinke-Lange, Verena; Mansmann, Ulrich; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2021):
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
In: Clinical Chemistry, Bd. 67, Nr. 11: S. 1483-1491
Schön, Ulrike; Holzer, Anna; Laner, Andreas; Kleinle, Stephanie; Scharf, Florentine; Benet-Pages, Anna; Peschel, Oliver; Holinski-Feder, Elke und Diebold, Isabel
(2021):
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
In: BMC Medical Genomics, Bd. 14, Nr. 1, 94
Steinke-Lange, Verena; de Putter, Robin; Holinski-Feder, Elke und Claes, Kathleen B. M.
(2021):
Somatic mosaics in hereditary tumor predisposition syndromes.
In: European Journal of Medical Genetics, Bd. 64, Nr. 12, 104360
Vangala, Deepak B.; Ladigan-Badura, Swetlana; Engel, Christoph; Hueneburg, Robert; Perne, Claudia; Bucksch, Karolin; Nattermann, Jacob; Steinke-Lange, Verena; Rahner, Nils; Weitz, Jürgen; Kloor, Matthias; Tomann, Judith; Canbay, Ali; Huu-Phuc, Nguyen; Strassburg, Christian; Moeslein, Gabriele; Morak, Monika; Holinski-Feder, Elke; Buettner, Reinhard; Aretz, Stefan; Löffler, Markus; Schmiegel, Wolff; Pox, Christian und Schulmann, Karsten
(2021):
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
In: International Journal of Cancer, Bd. 149, Nr. 12: S. 2052-2062
Morak, Monika; Steinke-Lange, Verena; Massdorf, Trisari; Benet-Pages, Anna; Locher, Melanie; Laner, Andreas; Kayser, Katrin; Aretz, Stefan und Holinski-Feder, Elke
(2020):
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
In: Familial Cancer, Bd. 19, Nr. 2: S. 161-167
Ahadova, Aysel; Seppälä, Toni T.; Engel, Christoph; Gallon, Richard; Burn, John; Holinski-Feder, Elke; Steinke-Lange, Verena; Möslein, Gabriela; Nielsen, Maartje; Broeke, Sanne W. ten; Laghi, Luigi; Dominguez-Valentin, Mev; Capella, Gabriel; Macrae, Finlay; Scott, Rodney; Hueneburg, Robert; Nattermann, Jacob; Hoffmeister, Michael; Brenner, Hermann; Bläker, Hendrik; Knebel Doeberitz, Magnus von; Sampson, Julian R.; Vasen, Hans; Mecklin, Jukka-Pekka; Moller, Pal und Kloor, Matthias
(2020):
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
In: International Journal of Cancer, Bd. 148, Nr. 4: S. 800-811
Dominguez-Valentin, Mev; Seppala, Toni T.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Sampson, Julian R.; Ryan, Neil A. J.; Evans, D. Gareth; Moller, Pal und Crosbie, Emma J.
(2020):
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
In: Journal of Clinical Medicine, Bd. 9, Nr. 7, 2290
Bucksch, Karolin; Zachariae, Silke; Aretz, Stefan; Buettner, Reinhard; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Kloor, Matthias; Knebel Doeberitz, Magnus von; Morak, Monika; Möslein, Gabriela; Nattermann, Jacob; Perne, Claudia; Rahner, Nils; Schmiegel, Wolff; Schulmann, Karsten; Steinke-Lange, Verena; Strassburg, Christian P.; Vangala, Deepak B.; Weitz, Jürgen; Loeffler, Markus und Engel, Christoph
(2020):
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
In: BMC Cancer, Bd. 20, Nr. 1
Engel, Christoph; Ahadova, Aysel; Seppala, Toni T.; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Blaeker, Hendrik; Bucksch, Karolin; Buettner, Reinhard; Vos Tot Nederveen Cappel, Wouter T. De; Endris, Volker; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Jacobs, Maarten A. J. M.; Koornstra, Jan J.; Langers, Alexandra M.; episto, Anna; Morak, Monika; M oeslein, Gabriela; Peltomaeki, Paivi; Pylvaenaeinen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Schulmann, Karsten; Steinke-Lange, Verena; Stenzinger, Albrecht; Strassburg, Christian P.; Meeberg, Paul C. van de; Kouwen, Mariette van; Leerdam, Monique van; Vangala, Deepak B.; Vecht, Juda; Verhulst, Marie-Louise; Knebel Doeberitz, Magnus von; Weitz, Jürgen; Zachariae, Silke; Loeffler, Markus; Mecklin, Jukka-Pekka; Kloor, Matthias und Vasen, Hans F.
(2020):
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
In: Gastroenterology, Bd. 158, Nr. 5: S. 1326-1333
Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Vos tot Nederveen Cappel, Wouter H. de; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T. und Moller, Pal
(2020):
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 705-712
Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; Vos Tot Nederveen Cappel, Wouter H. de; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rodland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Möslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje und Moller, Pal
(2020):
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
In: Genetics in Medicine, Bd. 22, Nr. 1: S. 15-25
Arnold, Anke Marie; Morak, Monika; Benet-Pages, Anna; Laner, Andreas; Frishman, Dimitrij und Holinski-Feder, Elke
(2020):
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
In: European Journal of Human Genetics, Bd. 28, Nr. 5: S. 597-608
Ladigan-Badura, Swetlana; Vangala, Deepak B.; Engel, Christoph; Bucksch, Karolin; Hueneburg, Robert; Perne, Claudia; Nattermann, Jacob; Steinke-Lange, Verena; Rahner, Nils; Schackert, Hans K.; Weitz, Jürgen; Kloor, Matthias; Kuhlkamp, Judith; Nguyen, Huu Phuc; Möslein, Gabriela; Strassburg, Christian; Morak, Monika; Holinski-Feder, Elke; Buettner, Reinhard; Aretz, Stefan; Loeffler, Markus; Schmiegel, Wolff; Pox, Christian und Schulmann, Karsten
(2020):
Value of uppergastrointestinalendoscopy for gastric cancer surveillance in patients with Lynch syndrome.
In: International Journal of Cancer, Bd. 148, Nr. 1: S. 106-114
Blaeker, Hendrik; Haupt, Saskia; Morak, Monika; Holinski-Feder, Elke; Arnold, Alexander; Horst, David; Sieber-Frank, Julia; Seidler, Florian; Winterfeld, Moritz von; Alwers, Elizabeth; Chang-Claude, Jenny; Brenner, Hermann; Roth, Wilfried; Engel, Christoph; Loeffler, Markus; Möslein, Gabriela; Schackert, Hans-Konrad; Weitz, Jürgen; Perne, Claudia; Aretz, Stefan; Hueneburg, Robert; Schmiegel, Wolff; Vangala, Deepak; Rahner, Nils; Steinke-Lange, Verena; Heuveline, Vincent; Knebel Doeberitz, Magnus von; Ahadova, Aysel; Hoffmeister, Michael und Kloor, Matthias
(2020):
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
In: International Journal of Cancer, Bd. 147, Nr. 10: S. 2801-2810
Diebold, Isabel; Schoen, Ulrike; Scharf, Florentine; Benet-Pages, Anna; Laner, Andreas; Holinski-Feder, Elke und Abicht, Angela
(2020):
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
In: Human Mutation, Bd. 41, Nr. 5: S. 1025-1032
Seppala, Toni T.; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. Gareth; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Moeslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Lautrup, Charlotte Kvist; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H.; Aretz, Stefan; Hueneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Della Valle, Adriana; Neffa, Florencia; Gluck, Nathan; Cappel, Wouter H. de Vos Tot Nederveen; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette und Moller, Pal
(2019):
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis;a prospective Lynch syndrome database report.
In: Hereditary Cancer in Clinical Practice, Bd. 17, 8
Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Koelbel, Heike und Abicht, Angela
(2019):
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
In: Molecular and Cellular Probes, Bd. 44: S. 14-20
Hueneburg, Robert; Aretz, Stefan; Buettner, Reinhard; Daum, Severin; Engel, Christoph; Fechner, Guido; Habermann, Jens K.; Heling, Dominik; Hoffmann, Katrin; Holinski-Feder, Elke; Kloor, Matthias; Knebel-Döberitz, Magnus von; Löffler, Markus; Moeslein, Gabriela; Perne, Claudia; Redler, Silke; Riess, Olaf; Schmiegel, Wolff; Seufferlein, Thomas; Siebers-Renelt, Ulrike; Steinke-Lange, Verena; Tecklenburg, Johanna; Vangala, Deepak; Vilz, Tim; Weitz, Jürgen; Wiedenmann, Bertram; Strassburg, Christian P. und Nattermann, Jacob
(2019):
Empfehlungen zur Früherkennung, Risikoreduktion, Überwachung und Therapie bei Patienten mit Lynch-Syndrom.
In: Zeitschrift für Gastroenterologie, Bd. 57, Nr. 11: S. 1309-1320
Morak, Monika; Schäfer, Kerstin; Steinke-Lange, Verena; Köhler, Udo; Keinath, Susanne; Massdorf, Trisari; Mauracher, Brigitte; Rahner, Nils; Bailey, Jessica; Kling, Christiane; Haeusser, Tanja; Laner, Andreas und Holinski-Feder, Elke
(2019):
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
In: European Journal of Human Genetics, Bd. 27, Nr. 12: S. 1808-1820
Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Helene; Vodak, Daniel; Ekstrom, Per Olaf; Nissen, Anke M.; Morak, Monika; Holinski-Feder, Elke; Holth, Arild; Capella, Gabriel; Davidson, Ben; Evans, D. Gareth; Martins, Alexandra; Moller, Pal und Hovig, Eivind
(2019):
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
In: Scientific Reports, Bd. 9, 18555
[PDF, 1MB]
Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Helene; Vodak, Daniel; Ekstrom, Per Olaf; Nissen, Anke M.; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Moller, Pal und Hovig, Eivind
(2018):
Identification of genetic variants for clinical management of familial colorectal tumors.
In: BMC Medical Genetics
19:26
[PDF, 652kB]
Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna und Diebold, Isabel
(2018):
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
In: Molecular Genetics & Genomic Medicine
Dominguez-Valentin, Mev; Evans, D. Gareth R.; Nakken, Sigve; Tubeuf, HLsne; Vodak, Daniel; Ekstrom, Per Olaf; Nissen, Anke M.; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Moller, Pal und Hovig, Eivind
(2018):
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
In: Hereditary Cancer in Clinical Practice
16:4
[PDF, 1MB]
Engel, Christoph; Vasen, Hans F.; Seppala, Toni; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Bör, Sybrand Y. de; Bucksch, Karolin; Buttner, Reinhard; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Jacobs, Maarten A. J. M.; Jarvinen, Heikki; Kloor, Matthias; Knebel Doeberitz, Magnus von; Koornstra, Jan J.; Kouwen, Mariette van; Langers, Alexandra M.; Meeberg, Paul C. van de; Morak, Monika; Moeslein, Gabriela; Nagengast, Fokko M.; Pylvanainen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Sanduleanu, Silvia; Schackert, Hans K.; Schmiegel, Wolff; Schulmann, Karsten; Steinke-Lange, Verena; Strassburg, Christian P.; Vecht, Juda; Verhulst, Marie-Louise; Vos Tot Nederveen Cappel, Wouter de; Zachariae, Silke; Mecklin, Jukka-Pekka und Löffler, Markus
(2018):
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
In: Gastroenterology, Bd. 155, Nr. 5: S. 1400-1409
Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Helene; Vodak, Daniel; Ekstrom, Per Olaf; Nissen, Anke M.; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Moller, Pal und Hovig, Eivind
(2018):
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
In: Familial Cancer, Bd. 17, Nr. 1: S. 141-153
Salome, Jenny von; Liu, Tao; Keihas, Markku; Morak, Moni; Holinski-Feder, Elke; Berry, Ian R.; Moilanen, Jukka S.; Baert-Desurmont, Stephanie; Lindblom, Annika und Lagerstedt-Robinson, Kristina
(2018):
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
In: Familial Cancer, Bd. 17, Nr. 4: S. 531-537
Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rodland, Einar Andreas; Tharmaratnam, Kukatharmini; Vos Tot Nederveen Cappel, Wouter H. de; Hill, James; Wijnen, Juul; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Sampson, Julian R.; Capella, Gabriel; Mecklin, Jukka-Pekka und Möslein, Gabriela
(2017):
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
In: Gut, Bd. 66, Nr. 3: S. 464-472
[PDF, 764kB]
Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke und Augustis, Sarunas
(2017):
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
In: Neuromuscular Disorders, Bd. 27, Nr. 5: S. 473-476
Moller, Pal; Seppala, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rodland, Einar Andreas; Tharmaratnam, Kukatharmini; Vos Tot Nederveen Cappel, Wouter H. de; Hill, James; Wijnen, Juul; Jenkins, Mark; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Moslein, Gabriela; Sampson, Julian R. und Capella, Gabriel
(2017):
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
In: Gut, Bd. 66, Nr. 9: S. 1657-1664
[PDF, 769kB]
Vargas-Parra, Gardenia M.; Gonzalez-Acosta, Maribel; Thompson, Bryony A.; Gomez, Carolina; Fernandez, Anna; Damaso, Estela; Pons, Tirso; Morak, Monika; Valle, Jesus del; Iglesias, Silvia; Velasco, Angela; Solanes, Ares; Sanjuan, Xavier; Padilla, Natalia; Cruz, Xavier de la; Valencia, Alfonso; Holinski-Feder, Elke; Brunet, Joan; Feliubadalo, Lidia; Lazaro, Conxi; Navarro, Matilde; Pineda, Marta und Capella, Gabriel
(2017):
Elucidating the molecular basis of MSH2-deficienttumors by combined germline and somatic analysis.
In: International Journal of Cancer, Bd. 141, Nr. 7: S. 1365-1380
Morak, Monika; Käsbauer, Sarah; Kerscher, Martina; Massdorf, Trisari; Holinski-Feder, Elke; Laner, Andreas; Nissen, Anke M.; Benet-Pages, Anna; Schackert, Hans K. und Keller, Gisela
(2017):
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
In: Familial Cancer, Bd. 16, Nr. 4: S. 491-500
Seppälä, Toni; Pylvänäinen, Kirsi; Evans, Dafydd Gareth; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rodland, Einar Andreas; Tharmaratnam, Kukatharmini; Vos tot Nederveen Cappel, Wouter H. de; Hill, James; Wijnen, Juul; Jenkins, Mark; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M.; Plazzer, John-Paul; Sampson, Julian R.; Capella, Gabriel; Möslein, Gabriela; Mecklin, Jukka-Pekka und Moller, Pal
(2017):
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.
In: Hereditary Cancer in Clinical Practice
15:18
[PDF, 621kB]
Vogelaar, Ingrid P.; Post, Rachel S. van der; Krieken, J. Han J. M. van; Spruijt, Liesbeth; Zelst-Stams, Wendy A. G. van; Kets, C. Marleen; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M.; Hest, Liselotte P. van; Pinheiro, Hugo; Oliveira, Carla; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Ligt, Joep de; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Gilissen, Christian; Vorst, Maartje van de; Goeman, Jelle J.; Schackert, Hans K.; Ranzani, Guglielmina N.; Molinaro, Valeria; Garcia, Encarna B. Gomez; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; Kolk, Lizet E. van der; Björnevoll, Inga; Hoberg-Vetti, Hildegunn; Kessel, Ad Geurts van; Kuiper, Roland P.; Ligtenberg, Marjolijn J. L. und Hoogerbrugge, Nicoline
(2017):
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
In: European Journal of Human Genetics, Bd. 25, Nr. 11: S. 1246-1252
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743
Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan
(2016):
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351
Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M.; Holinski-Feder, Elke; Schweiger, Michal R. und Aretz, Stefan
(2016):
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
In: Journal of Medical Genetics, Bd. 53, Nr. 3: S. 172-179
[PDF, 1MB]
Spier, Isabel; Kerick, Martin; Drichel, Dmitriy; Horpaopan, Sukanya; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P.; Holinski-Feder, Elke; Perner, Sven; Thiele, Holger; Nöthen, Markus M.; Hoffmann, Per; Timmermann, Bernd; Schweiger, Michal R. und Aretz, Stefan
(2016):
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
In: Familial Cancer, Bd. 15, Nr. 2: S. 281-288
Morak, Monika; Koehler, Udo; Schackert, Hans Konrad; Steinke, Verena; Royer-Pokora, Brigitte; Schulmann, Karsten; Kloor, Matthias; Höchter, Wilhelm; Weingart, Josef; Keiling, Cortina; Massdorf, Trisari und Holinski-Feder, Elke
(August 2011):
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
In: Journal of medical genetics, Bd. 48, Nr. 8: S. 513-519
[PDF, 917kB]
Carrai, Maura; Steinke, Verena; Vodicka, Pavel; Pardini, Barbara; Rahner, Nils; Holinski-Feder, Elke; Morak, Monika; Schackert, Hans K.; Görgens, Heike; Stemmler, Susanne; Betz, Beate; Kloor, Matthias; Engel, Christoph; Büttner, Reinhard; Naccarati, Alessio; Vodickova, Ludmila; Novotny, Jan; Stein, Angelika; Hemminki, Kari; Propping, Peter; Försti, Asta; Canzian, Federico; Barale, Roberto und Campa, Daniele
(2011):
Association between TAS2R38 gene polymorphisms and colorectal cancer risk. A case-control study in two independent populations of Caucasian origin.
In: PLOS ONE 6(6), e20464 [PDF, 112kB]
In: PLOS ONE 6(6), e20464 [PDF, 112kB]
Campa, Daniele; Pardini, Barbara; Naccarati, Alessio; Vodickova, Ludmila; Novotny, Jan; Steinke, Verena; Rahner, Nils; Holinski-Feder, Elke; Morak, Monika; Schackert, Hans K.; Goergens, Heike; Koetting, Judith; Betz, Beate; Kloor, Matthias; Engel, Christoph; Buettner, Reinhard; Propping, Peter; Foersti, Asta; Hemminki, Kari; Barale, Roberto; Vodicka, Pavel und Canzian, Federico
(2010):
Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study.
In: BMC Gastroenterology
10:112
[PDF, 235kB]